Directed search for thrombomodulin gene mutations

Haemostasis. 1996 Oct:26 Suppl 4:227-32. doi: 10.1159/000217303.

Abstract

Thrombomodulin is a principle thrombin receptor located on the vascular endothelium. Thrombomodulin alters the specificity of thrombin, redirecting its procoagulant function to an anticoagulant function by making it a more efficient activator of protein C. While mutation of the genes of other components of this anticoagulant mechanism, protein C, protein S and factor V, is known to predispose towards venous thromboembolism, there are only a few reports of the investigation of thrombomodulin gene mutation. We present the design and evaluation of a strategy to investigate thrombomodulin gene mutation in arterial and venous thrombosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebrovascular Disorders / genetics
  • Codon / genetics
  • DNA Mutational Analysis / methods*
  • Gene Frequency
  • Genes*
  • Humans
  • Myocardial Infarction / genetics
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational*
  • Thrombin / metabolism
  • Thromboembolism / genetics*
  • Thrombomodulin / genetics*

Substances

  • Codon
  • Thrombomodulin
  • Thrombin